Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.G61E

HPDL

70 papers

RefSeq Summary

The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in thi...

Gene Aliases

HGNC Name

4-hydroxyphenylpyruvate dioxygenase like

HGNC Previous Symbol

GLOXD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032756.4
p.G61E
c.182G>A
Surrounding Variants
1 paper
NM_032756.4
p.G59_P65del7
c.175_194del21
2 papers
NM_032756.4
p.P65S
c.193C>T
1 paper
NM_032756.4
p.R72_P76del0
c.215_226del12
2 papers
NM_032756.4
p.R72fs
c.214_215fs
2 papers
NM_032756.4
p.R72fs
c.214_215fs
10 papers
NM_032756.4
p.G50D
c.149G>A
1 paper
NM_032756.4
p.G50A
c.149G>C
1 paper
NM_032756.4
p.R72L
c.215G>T
3 papers
NM_032756.4
p.R72_P76Fs
c.215_226delinsTGTACGGCCTGGATFs
1 paper
NM_032756.4
p.S49R
c.147C>A
1 paper
NM_032756.4
p.S49R
c.147C>G
1 paper
NM_032756.4
p.S49R
c.145A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."